Deafness, Autosomal Recessive 22
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing reveals novel variants and unique allelic spectrum for hearing impairment in Filipino cochlear implantees.
|
30828794 |
2019 |
Sensorineural Hearing Loss (disorder)
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Congenital adrenal hyperplasia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
alpha 1-Antitrypsin Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Cytochrome-c Oxidase Deficiency
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Adrenogenital Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
von Willebrand Disease, Type 2N
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
COMPLEMENT COMPONENT 2 DEFICIENCY
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
In particular, non-random occurrence was revealed for SERPINA1 c.1096G > A (alpha-1 antitrypsin deficiency), C8B c.1282C > T and c.1653G > A (complement component 8B deficiency), ATP7B c.3207C > A (Wilson disease), PROP1 c.301_302delAG (combined pituitary hormone deficiency), CYP21A2 c.844G > T (non-classical form of adrenogenital syndrome), EYS c.1155T > A (retinitis pigmentosa), HADHA c.1528G > C (LCHAD deficiency), SCO2 c.418G > A (cytochrome c oxidase deficiency), OTOA c.2359G > T (sensorineural deafness), C2 c.839_866del (complement component 2 deficiency), ACADVL c.848T > C (VLCAD deficiency), TGM5 c.337G > T (acral peeling skin syndrome) and VWF c.2561 G > A (von Willebrand disease, type 2N).
|
31028847 |
2019 |
Deafness, Autosomal Recessive 22
|
0.800 |
Biomarker
|
disease |
MGD |
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
|
23129639 |
2012 |
Deafness, Autosomal Recessive 22
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
|
23173898 |
2013 |
Deafness, Autosomal Recessive 22
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
hearing impairment
|
0.310 |
Biomarker
|
phenotype |
BEFREE |
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
|
23129639 |
2012 |
hearing impairment
|
0.310 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
|
23173898 |
2013 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
|
26969326 |
2016 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
|
16460646 |
2006 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
|
23173898 |
2013 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss.
|
25528277 |
2014 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
|
19888295 |
2010 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
|
26029705 |
2015 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
|
23129639 |
2012 |
Nonsyndromic Deafness
|
0.300 |
Biomarker
|
disease |
CLINGEN |
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
|
11972037 |
2002 |
Sensorineural hearing loss, bilateral
|
0.200 |
Biomarker
|
disease |
MGD |
A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
|
23129639 |
2012 |
Sensorineural Hearing Loss (disorder)
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
|
11972037 |
2002 |
Deafness, Autosomal Recessive 22
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|